Seroatlas · Human Serome Atlas

SLFN14

Protein SLFN14

Also known as: SLN14_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P0C7P3
Gene: SLFN14
Ensembl: ENSG00000236320
Chromosome: 17
Canonical length: 912 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

912 residues, UniProt reviewed canonical sequence.

>P0C7P3|SLFN14
     1  MESLKTDTEM PYPEVIVDVG RVIFGEENRK KMTNSCLKRS ENSRIIRAIC ALLNSGGGVI
    61  KAEIDDKTYS YQCHGLGQDL ETSFQKLLPS GSQKYLDYMQ QGHNLLIFVK SWSPDVFSLP
   121  LRICSLRSNL YRRDVTSAIN LSASSALELL REKGFRAQRG RPRVKKLHPQ QVLNRCIQEE
   181  EDMRILASEF FKKDKLMYKE KLNFTESTHV EFKRFTTKKV IPRIKEMLPH YVSAFANTQG
   241  GYVLIGVDDK SKEVVGCKWE KVNPDLLKKE IENCIEKLPT FHFCCEKPKV NFTTKILNVY
   301  QKDVLDGYVC VIQVEPFCCV VFAEAPDSWI MKDNSVTRLT AEQWVVMMLD TQSAPPSLVT
   361  DYNSCLISSA SSARKSPGYP IKVHKFKEAL QRHLFPVTQE EVQFKPESLC KKLFSDHKEL
   421  EGLMKTLIHP CSQGIVIFSR SWAGDVGFRK EQNVLCDALL IAVNSPVVLY TILIDPNWPG
   481  GLEYARNTAH QLKQKLQTVG GYTGKVCIIP RLIHLSSTQS RPGEIPLRYP RSYRLADEEE
   541  MEDLLQALVV VSLSSRSLLS DQMGCEFFNL LIMEQSQLLS ESLQKTRELF IYCFPGVRKT
   601  ALAIKIMEKI KDLFHCKPKE ILYVCESDSL KDFVTQQTTC QAVTRKTFMQ GEFLKIKHIV
   661  MDETENFCSK YGNWYMKAKN ITHPKAKGTG SENLHHGILW LFLDPFQIHH ADVNGLPPPS
   721  AQFPRKTITS GIHCALEIAK VMKEEMKRIK ENPPSNMSPD TLALFSETAY EEATCAQALP
   781  GVCETKTNLT TEQIANYVAR KCHSLFQCGY LPKDIAILCR RGEDRGRYRL ALLKAMELIE
   841  THRPSEVVFS PATGVWGSHI VLDSIQQFSG LERTVVFGLS PECDQSEEFH KLCFASRAIK
   901  HLYLLYEKRA AY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLFN14 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 3.9 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 3.9 nTPM
spleen: 0.7 nTPM
lymph node: 0.5 nTPM
small intestine: 0.4 nTPM
appendix: 0.3 nTPM
lung: 0.3 nTPM

Single-cell type

platelets: 157 nCPM
megakaryocytes: 31 nCPM
erythrocytes: 23 nCPM
erythrocyte progenitors: 8 nCPM
megakaryocyte-erythroid progenitors: 2.6 nCPM
cone photoreceptor cells: 2.1 nCPM

Immune cell

neutrophil: 0.7 nTPM
eosinophil: 0.5 nTPM
basophil: 0.4 nTPM
total PBMC: 0.3 nTPM
non-classical monocyte: 0.1 nTPM
T-reg: 0.1 nTPM

Brain region

white matter: 1.8 nTPM
cerebral cortex: 1.5 nTPM
medulla oblongata: 1.5 nTPM
pons: 1.4 nTPM
thalamus: 1.4 nTPM
amygdala: 1.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLFN14.

Disease | AllUniProt

Conditions SLFN14 is implicated in, by any mechanism.

Bleeding disorder, platelet-type, 20 (BDPLT20) MIM:616913

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 209 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Platelet-type bleeding disorder 20
Thrombocytopenia
Abnormal bleeding
Bleeding and platelet disorders
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.92
gnomAD pLI: 0
gnomAD missense Z: 2.43
DepMap mean gene effect: -0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLFN14 as an antibody target. Whether an autoantibody or antibody against SLFN14 could matter depends on whether native SLFN14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLFN14 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLFN14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...